Mendelian Inheritance Flashcards
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Numerical chromosomal abnormalities are called
Aneuploidy. Example, monsomy- Turner syndrome
Trisomy- down syndrome
Tetrasomy..
Monosomy of the sec chromosomes, 45X causese?
Turner syndrome
Down syndrome is caused by
Presence of an extra chromosome on chromosome 21
Called trisomy 21
Trisomy of the sex chromosome causes
Klinefelter syndrome. Gynaecomastia in pectoral region and breast
Examples of x linked dominant inheritance diseases
Fragile x syndrome
Incontinentia pigmenti
Examples of sex linked recessive disorders
Color blindness
Haemophelia
Y linked inheritance
Holandric inheritance
Examples of y linked diseases
Hairy ears
Y chromosomes infertility
Y chromosomes infertility causes
Caused by deletions of genes in the AZF regions
Types of chromosomal mutations
Numerical (Aneuploidy)
Monsomy
Trisomy
Tetrasomy
Structural
Deletions
Inversions
Translocations
Duplications